Factor XI deficiency: two novel mutations in asymptomatic Italian patients |
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| Authors: | M. TOMAIUOLO G. FAVUZZI F. CAPPUCCI D. PISANELLI G. L. TISCIA P. MUSTO F. A. SCARAGGI R. I. CINCIONE M. MARGAGLIONE E. GRANDONE |
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| Affiliation: | 1. Atherosclerosis and Thrombosis Unit, I.R.C.C.S. “Casa Sollievo della Sofferenza”, S. Giovanni Rotondo (FG);2. Centro di riferimento oncologico della Basilicata, I.R.C.C.S. Unità di Ematologia e trapianto di cellule staminali. Rionero in Vulture, Potenza;3. Clinica Medica II‐ Centro Emofilia, University of Bari, Bari;4. Patologia Clinica, University of Foggia, Foggia;5. Medical Genetics, University of Foggia, Foggia, Italy |
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| Abstract: | Summary. Factor XI (FXI) deficiency is a rare bleeding disorder, resulting in a wide range of bleeding manifestations, from asymptomatic bleeding to injury‐related bleeding. To identify mutations in FXI‐deficient patients and to establish a possible relationship between clinical phenotype and genotype, we studied two patients from Southern Italy with FXI deficiency. They were identified by presurgical or routine laboratory screening. None of them showed bleeding. Three different mutations were detected (Glu117Stop, Cys118Arg and Trp497Gly); two of them were novel (Cys118Arg and Trp497Gly). One patient (with severe FXI levels) showed a compound heterozygosity (Glu117Stop with Cys118Arg). Two novel missense mutations were highly conserved among different species. In our patients, bleeding tendency did not appear to be correlated with FXI levels or with a single mutation in heterozygosis. On the other hand, the compound heterozygosis might explain low FXI levels, but it is not associated with bleeding. Our data confirm that a severe FXI deficiency is not necessarily associated with bleeding. |
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| Keywords: | clinical phenotype factor XI deficiency gene mutation |
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